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        "maneVersion": "1.3",
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        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340140"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
        "hgvs": "ENSP00000423202.2:p.Gln43Ter",
        "hgvsWellDefined": "ENSP00000423202.2:p.Gln43_Thr329delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysProLeuGluLysHisLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "ENST00000629193.2:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486535.1:p.Gln43Ter",
        "hgvsWellDefined": "ENSP00000486535.1:p.Gln43_Thr329delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyIleLysProLeuGluLysHisLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407180"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573095182",
      "coordinates": [
        {
          "allele": "T",
          "end": 265,
          "referenceAllele": "C",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NM_022132.4:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071415.1:p.Gln43Ter",
        "hgvsWellDefined": "NP_071415.1:p.Gln43_Met563delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_005248567.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005248624.1:p.Gln43Ter",
        "hgvsWellDefined": "XP_005248624.1:p.Gln43_Met525delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_011543528.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541830.1:p.Gln43Ter",
        "hgvsWellDefined": "XP_011541830.1:p.Gln43_Leu368delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrAlaLeuGlyLysAlaGlnAspIleAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_011543529.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541831.1:p.Gln43Ter",
        "hgvsWellDefined": "XP_011541831.1:p.Gln43_Glu363delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisGlyLysGluValLysAsnAsnSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828079858",
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NM_001363147.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350076.1:p.Gln43Ter",
        "hgvsWellDefined": "NP_001350076.1:p.Gln43_Met525delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523195"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_011543529.2:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011541831.1:p.Gln43Ter",
        "hgvsWellDefined": "XP_011541831.1:p.Gln43_Glu363delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisGlyLysGluValLysAsnAsnSerGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XM_017009688.1:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016865177.1:p.Gln43Ter",
        "hgvsWellDefined": "XP_016865177.1:p.Gln43_Leu365delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluLysPhePheMetLysTyrPheLeuArgLeuAspLeuAsnSerTyrAsnSerThrTrpGlnHisAlaLeuGlyLysAlaGlnAspIleAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 167,
          "referenceAllele": "C",
          "start": 166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "XR_001742172.1:n.167C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573095182",
      "coordinates": [
        {
          "allele": "T",
          "end": 213,
          "referenceAllele": "C",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NM_022132.5:c.127C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071415.1:p.Gln43Ter",
        "hgvsWellDefined": "NP_071415.1:p.Gln43_Met563delinsGluAsnTyrLysGlnMetLysAlaLeuValAsnGlnLeuHisGluArgValGluHisIleLysLeuGlyGlyGlyGluLysAlaArgAlaLeuHisIleSerArgGlyLysLeuLeuProArgGluArgIleAspAsnLeuIleAspProGlySerProPheLeuGluLeuSerGlnPheAlaGlyTyrGlnLeuTyrAspAsnGluGluValProGlyGlyGlyIleIleThrGlyIleGlyArgValSerGlyValGluCysMetIleIleAlaAsnAspAlaThrValLysGlyGlyAlaTyrTyrProValThrValLysLysGlnLeuArgAlaGlnGluIleAlaMetGlnAsnArgLeuProCysIleTyrLeuValAspSerGlyGlyAlaTyrLeuProArgGlnAlaAspValPheProAspArgAspHisPheGlyArgThrPheTyrAsnGlnAlaIleMetSerSerLysAsnIleAlaGlnIleAlaValValMetGlySerCysThrAlaGlyGlyAlaTyrValProAlaMetAlaAspGluAsnIleIleValArgLysGlnGlyThrIlePheLeuAlaGlyProProLeuValLysAlaAlaThrGlyGluGluValSerAlaGluAspLeuGlyGlyAlaAspLeuHisCysArgLysSerGlyValSerAspHisTrpAlaLeuAspAspHisHisAlaLeuHisLeuThrArgLysValValArgAsnLeuAsnTyrGlnLysLysLeuAspValThrIleGluProSerGluGluProLeuPheProAlaAspGluLeuTyrGlyIleValGlyAlaAsnLeuLysArgSerPheAspValArgGluValIleAlaArgIleValAspGlySerArgPheThrGluPheLysAlaPheTyrGlyAspThrLeuValThrGlyPheAlaArgIlePheGlyTyrProValGlyIleValGlyAsnAsnGlyValLeuPheSerGluSerAlaLysLysGlyThrHisPheValGlnLeuCysCysGlnArgAsnIleProLeuLeuPheLeuGlnAsnIleThrGlyPheMetValGlyArgGluTyrGluAlaGluGlyIleAlaLysAspGlyAlaLysMetValAlaAlaValAlaCysAlaGlnValProLysIleThrLeuIleIleGlyGlySerTyrGlyAlaGlyAsnTyrGlyMetCysGlyArgAlaTyrSerProArgPheLeuTyrIleTrpProAsnAlaArgIleSerValMetGlyGlyGluGlnAlaAlaAsnValLeuAlaThrIleThrLysAspGlnArgAlaArgGluGlyLysGlnPheSerSerAlaAspGluAlaAlaLeuLysGluProIleIleLysLysPheGluGluGluGlyAsnProTyrTyrSerSerAlaArgValTrpAspAspGlyIleIleAspProAlaAspThrArgLeuValLeuGlyLeuSerPheSerAlaAlaLeuAsnAlaProIleGluLysThrAspPheGlyIlePheArgMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670390",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340941.11:c.127C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022132.5:c.127C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000343657.6:p.Gln43Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071415.1:p.Gln43Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}